Incidental Mutation 'R5680:G3bp2'
| ID |
442972 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
G3bp2
|
| Ensembl Gene |
ENSMUSG00000029405 |
| Gene Name |
G3BP stress granule assembly factor 2 |
| Synonyms |
G3BP, E430034L04Rik, G3BP2 |
| MMRRC Submission |
043177-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5680 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
92200005-92231578 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 92216219 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 106
(R106G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144456
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113127]
[ENSMUST00000164378]
[ENSMUST00000167918]
[ENSMUST00000169094]
[ENSMUST00000201820]
[ENSMUST00000202123]
[ENSMUST00000202258]
|
| AlphaFold |
P97379 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113127
AA Change: R106G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000108752
Gene: ENSMUSG00000029405
AA Change: R106G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NTF2
|
11 |
133 |
8.4e-34 |
PFAM |
|
low complexity region
|
140 |
159 |
N/A |
INTRINSIC |
|
low complexity region
|
186 |
211 |
N/A |
INTRINSIC |
|
low complexity region
|
214 |
224 |
N/A |
INTRINSIC |
|
low complexity region
|
254 |
279 |
N/A |
INTRINSIC |
|
RRM
|
299 |
372 |
6.07e-14 |
SMART |
|
low complexity region
|
376 |
427 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000164378
AA Change: R106G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000128353
Gene: ENSMUSG00000029405
AA Change: R106G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NTF2
|
11 |
133 |
5.5e-36 |
PFAM |
|
low complexity region
|
140 |
159 |
N/A |
INTRINSIC |
|
low complexity region
|
186 |
211 |
N/A |
INTRINSIC |
|
low complexity region
|
214 |
224 |
N/A |
INTRINSIC |
|
low complexity region
|
287 |
312 |
N/A |
INTRINSIC |
|
RRM
|
332 |
405 |
6.07e-14 |
SMART |
|
low complexity region
|
409 |
460 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000167918
AA Change: R106G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000132469
Gene: ENSMUSG00000029405
AA Change: R106G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NTF2
|
11 |
133 |
8.4e-34 |
PFAM |
|
low complexity region
|
140 |
159 |
N/A |
INTRINSIC |
|
low complexity region
|
186 |
211 |
N/A |
INTRINSIC |
|
low complexity region
|
214 |
224 |
N/A |
INTRINSIC |
|
low complexity region
|
254 |
279 |
N/A |
INTRINSIC |
|
RRM
|
299 |
372 |
6.07e-14 |
SMART |
|
low complexity region
|
376 |
427 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000169094
AA Change: R106G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000128244
Gene: ENSMUSG00000029405
AA Change: R106G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NTF2
|
11 |
133 |
1.1e-34 |
PFAM |
|
low complexity region
|
140 |
159 |
N/A |
INTRINSIC |
|
low complexity region
|
186 |
211 |
N/A |
INTRINSIC |
|
low complexity region
|
214 |
224 |
N/A |
INTRINSIC |
|
low complexity region
|
287 |
312 |
N/A |
INTRINSIC |
|
RRM
|
332 |
405 |
6.07e-14 |
SMART |
|
low complexity region
|
409 |
460 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000201820
AA Change: R106G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000144404
Gene: ENSMUSG00000029405
AA Change: R106G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NTF2
|
11 |
117 |
9.5e-28 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201824
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000202123
AA Change: R106G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000143804
Gene: ENSMUSG00000029405
AA Change: R106G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NTF2
|
11 |
133 |
5.2e-34 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000202258
AA Change: R106G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000144456
Gene: ENSMUSG00000029405
AA Change: R106G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NTF2
|
11 |
133 |
5.5e-36 |
PFAM |
|
low complexity region
|
140 |
159 |
N/A |
INTRINSIC |
|
low complexity region
|
186 |
211 |
N/A |
INTRINSIC |
|
low complexity region
|
214 |
224 |
N/A |
INTRINSIC |
|
low complexity region
|
287 |
312 |
N/A |
INTRINSIC |
|
RRM
|
332 |
405 |
6.07e-14 |
SMART |
|
low complexity region
|
409 |
460 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202352
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202125
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
T |
A |
14: 32,384,010 (GRCm39) |
R652W |
probably damaging |
Het |
| Abca6 |
A |
G |
11: 110,127,471 (GRCm39) |
F362S |
possibly damaging |
Het |
| Adcy1 |
G |
A |
11: 7,059,020 (GRCm39) |
V309M |
probably damaging |
Het |
| Agap2 |
A |
G |
10: 126,923,880 (GRCm39) |
K752E |
unknown |
Het |
| Ahdc1 |
T |
A |
4: 132,792,907 (GRCm39) |
F1383I |
probably benign |
Het |
| Ano5 |
G |
A |
7: 51,233,562 (GRCm39) |
R658H |
possibly damaging |
Het |
| Atn1 |
A |
T |
6: 124,724,778 (GRCm39) |
S152T |
possibly damaging |
Het |
| Bcl11a |
G |
A |
11: 24,114,264 (GRCm39) |
V536M |
possibly damaging |
Het |
| Cdc20 |
T |
C |
4: 118,290,264 (GRCm39) |
T466A |
probably damaging |
Het |
| Cecr2 |
C |
G |
6: 120,738,387 (GRCm39) |
T1010R |
probably benign |
Het |
| Cfap54 |
A |
T |
10: 92,814,879 (GRCm39) |
L1318* |
probably null |
Het |
| Colec11 |
A |
G |
12: 28,644,730 (GRCm39) |
S249P |
probably damaging |
Het |
| Dnah6 |
A |
G |
6: 73,126,508 (GRCm39) |
V1273A |
probably damaging |
Het |
| Ggt7 |
A |
T |
2: 155,348,353 (GRCm39) |
C100S |
probably damaging |
Het |
| Grik4 |
A |
T |
9: 42,540,415 (GRCm39) |
M255K |
probably benign |
Het |
| Kcnj11 |
A |
T |
7: 45,748,232 (GRCm39) |
S364T |
probably benign |
Het |
| Lnpep |
A |
T |
17: 17,799,444 (GRCm39) |
Y70* |
probably null |
Het |
| Mark1 |
T |
C |
1: 184,677,013 (GRCm39) |
H79R |
probably damaging |
Het |
| Mdfic2 |
T |
A |
6: 98,225,187 (GRCm39) |
Q32L |
probably damaging |
Het |
| Myo9b |
T |
G |
8: 71,743,016 (GRCm39) |
S26A |
probably benign |
Het |
| Pa2g4 |
G |
T |
10: 128,395,326 (GRCm39) |
N306K |
probably benign |
Het |
| Pik3c3 |
T |
A |
18: 30,410,166 (GRCm39) |
Y133* |
probably null |
Het |
| Prpf6 |
G |
T |
2: 181,290,933 (GRCm39) |
A675S |
probably damaging |
Het |
| Psca |
A |
G |
15: 74,587,948 (GRCm39) |
D44G |
probably benign |
Het |
| Sag |
T |
A |
1: 87,749,059 (GRCm39) |
F153I |
possibly damaging |
Het |
| Scn10a |
A |
G |
9: 119,453,202 (GRCm39) |
L1231P |
probably damaging |
Het |
| Sirpa |
T |
C |
2: 129,458,172 (GRCm39) |
S157P |
probably benign |
Het |
| Slc27a2 |
A |
T |
2: 126,403,530 (GRCm39) |
R184S |
probably benign |
Het |
| Tagln2 |
T |
C |
1: 172,333,479 (GRCm39) |
F111S |
probably damaging |
Het |
| Tasor |
CGCGGCGGCGGCGGCGG |
CGCGGCGGCGGCGGCGGCGGCGG |
14: 27,151,080 (GRCm39) |
|
probably benign |
Het |
| Tbc1d1 |
A |
G |
5: 64,481,887 (GRCm39) |
D696G |
possibly damaging |
Het |
| Tert |
T |
A |
13: 73,790,470 (GRCm39) |
|
probably null |
Het |
| Togaram2 |
G |
A |
17: 71,996,204 (GRCm39) |
R68K |
probably benign |
Het |
| Trim40 |
A |
T |
17: 37,199,874 (GRCm39) |
I68N |
probably damaging |
Het |
| Trpa1 |
T |
C |
1: 14,946,078 (GRCm39) |
M1018V |
probably benign |
Het |
| Unc13c |
A |
T |
9: 73,839,884 (GRCm39) |
N322K |
probably damaging |
Het |
| Vmn2r75 |
T |
A |
7: 85,820,779 (GRCm39) |
T52S |
probably benign |
Het |
| Vmn2r90 |
T |
G |
17: 17,947,034 (GRCm39) |
V437G |
possibly damaging |
Het |
| Vps16 |
C |
A |
2: 130,282,244 (GRCm39) |
H389N |
possibly damaging |
Het |
|
| Other mutations in G3bp2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00687:G3bp2
|
APN |
5 |
92,213,707 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02124:G3bp2
|
APN |
5 |
92,221,106 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL02519:G3bp2
|
APN |
5 |
92,214,383 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL03146:G3bp2
|
APN |
5 |
92,214,399 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03183:G3bp2
|
APN |
5 |
92,202,905 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL03195:G3bp2
|
APN |
5 |
92,216,367 (GRCm39) |
splice site |
probably benign |
|
|
IGL03385:G3bp2
|
APN |
5 |
92,216,254 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0558:G3bp2
|
UTSW |
5 |
92,221,056 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1067:G3bp2
|
UTSW |
5 |
92,211,187 (GRCm39) |
splice site |
probably benign |
|
|
R1621:G3bp2
|
UTSW |
5 |
92,204,137 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2294:G3bp2
|
UTSW |
5 |
92,205,887 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3698:G3bp2
|
UTSW |
5 |
92,204,139 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4159:G3bp2
|
UTSW |
5 |
92,212,260 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4195:G3bp2
|
UTSW |
5 |
92,203,275 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4754:G3bp2
|
UTSW |
5 |
92,202,768 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R5518:G3bp2
|
UTSW |
5 |
92,216,347 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5937:G3bp2
|
UTSW |
5 |
92,203,256 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8769:G3bp2
|
UTSW |
5 |
92,231,356 (GRCm39) |
intron |
probably benign |
|
|
R8945:G3bp2
|
UTSW |
5 |
92,216,281 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9723:G3bp2
|
UTSW |
5 |
92,214,388 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACAGTCAGAGATACCAGGTATGC -3'
(R):5'- TGGGTAGTTAATGTGGTAGCACAAG -3'
Sequencing Primer
(F):5'- TCAGAGATACCAGGTATGCAAATAG -3'
(R):5'- GCACAAGAAGTTTATTTTCTTCACCC -3'
|
| Posted On |
2016-11-09 |
Incidental Mutation